Audiologic and otologic characteristics of Pfeiffer syndrome

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
L D Vallino-Napoli

Abstract

To examine the prevalence and type of hearing loss and otopathology in patients with Pfeiffer syndrome. Retrospective and prospective study design. A pediatric tertiary care hospital. Nine patients-ranging in age from 2 to 12 years. Hearing levels and middle ear function were assessed using standard procedures. Otoscopy was also conducted. Computerized tomography (CT) scans of the temporal bone were obtained to study outer, middle, and inner ear anatomy. Hearing loss was present in eight of the nine patients. The degree of loss varied but was moderate to severe in most patients. Seven patients had conductive hearing loss and one had mixed loss; none had purely sensorineural loss. Four patients had a history of middle ear effusion. Primary CT findings showed stenosis and/or atresia of the external auditory canal, hypoplasia of the middle ear cavity, and an enlarged middle ear cavity. The ossicles were hypoplastic in a few cases. With one exception, inner ear anatomy was normal. Otologic malformations and hearing loss are features of Pfeiffer syndrome. Major factors contributing to hearing loss were anatomic abnormalities of the external auditory canal and middle ear, which can be identified by computerized tomography. Otitis med...Continue Reading

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